July 19, 2019  |  

Long-read sequence assembly of the gorilla genome.

Authors: Gordon, David and Huddleston, John and Chaisson, Mark J P and Hill, Christopher M and Kronenberg, Zev N and Munson, Katherine M and Malig, Maika and Raja, Archana and Fiddes, Ian and Hillier, LaDeana W and Dunn, Christopher and Baker, Carl and Armstrong, Joel and Diekhans, Mark and Paten, Benedict and Shendure, Jay and Wilson, Richard K and Haussler, David and Chin, Chen-Shan and Eichler, Evan E

Accurate sequence and assembly of genomes is a critical first step for studies of genetic variation. We generated a high-quality assembly of the gorilla genome using single-molecule, real-time sequence technology and a string graph de novo assembly algorithm. The new assembly improves contiguity by two to three orders of magnitude with respect to previously released assemblies, recovering 87% of missing reference exons and incomplete gene models. Although regions of large, high-identity segmental duplications remain largely unresolved, this comprehensive assembly provides new biological insight into genetic diversity, structural variation, gene loss, and representation of repeat structures within the gorilla genome. The approach provides a path forward for the routine assembly of mammalian genomes at a level approaching that of the current quality of the human genome. Copyright © 2016, American Association for the Advancement of Science.

Journal: Science
DOI: 10.1126/science.aae0344
Year: 2016

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